{
  "abstract": "Background\n\nDystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies caused by impaired glycosylation of α-dystroglycan, with variants in multiple genes, including CRPPA, which is associated with a broad spectrum ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy.Method\n\nThe proband underwent whole exome sequencing, while Sanger sequencing was used for segregation analysis and oligonucleotide array-CGH was performed to confirm the copy number variant.Results\n\nWe report two siblings harboring an identical novel compound heterozygous CRPPA genotype, comprising a novel c.267G>C missense variant and a deletion encompassing exons 9-10. Despite sharing the same genotype, the siblings showed marked phenotypic variability. The female sibling developed childhood-onset disease with proximal weakness involving both the upper and lower limbs, whereas the male sibling presented with late-onset disease and weakness confined to the proximal lower limbs, accompanied by markedly discordant serum creatine kinase levels (1193 vs. 460 U/L).Conclusion\n\nThese findings expand the mutational and clinical spectrum of CRPPA-related dystroglycanopathy, highlight marked intrafamilial phenotypic variability, and emphasize the importance of integrated single-nucleotide and copy number variant analysis in the genetic diagnosis of neuromuscular disorders.",
  "abstract_shown": true,
  "affiliations": [
    "Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran.",
    "Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.",
    "Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Parnian Alagha",
      "orcid": "0009-0005-0574-6535"
    },
    {
      "affs": [
        0
      ],
      "name": "Fatemeh Ahangari"
    },
    {
      "affs": [
        0
      ],
      "name": "Ariana Kariminejad",
      "orcid": "0000-0002-8467-4728"
    },
    {
      "affs": [
        2
      ],
      "name": "Aida Ghasemi",
      "orcid": "0000-0001-6386-7961"
    },
    {
      "affs": [
        0
      ],
      "name": "Soheila Gholami"
    },
    {
      "affs": [
        0
      ],
      "name": "Neda Sadatian"
    },
    {
      "affs": [
        0
      ],
      "name": "Roxana Kariminejad",
      "orcid": "0000-0003-1943-2391"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Kimia Kahrizi",
      "orcid": "0000-0002-6587-7706"
    },
    {
      "affs": [
        2
      ],
      "name": "Ali Asghar Okhovat",
      "orcid": "0000-0002-9286-4943"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Hossein Najmabadi",
      "orcid": "0000-0002-6084-7778"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2czxdbbxa23cd.bib",
  "cited_by": 0,
  "doi": "10.1002/mgg3.70312",
  "fulltext_url": "https://europepmc.org/articles/PMC13688433",
  "id": "2czxdbbxa23cd",
  "issns": [
    "2324-9269"
  ],
  "landing_url": "https://europepmc.org/article/MED/42910546",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1312|Muscle Physiology and Disorders"
    ]
  ],
  "openalex": "W7223179621",
  "pdf_url": "https://europepmc.org/articles/PMC13688433?pdf=render",
  "pmcid": "PMC13688433",
  "pmid": "42910546",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/2czxdbbxa23cd.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:14Z",
      "native_id": "MED:42910546",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42910546"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Muscle Physiology and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Variable Phenotypic Manifestations of Novel Compound Heterozygous CRPPA Variants in Two Iranian Siblings With Limb-Girdle Muscular Dystrophy.",
  "title_text": "Variable Phenotypic Manifestations of Novel Compound Heterozygous CRPPA Variants in Two Iranian Siblings With Limb-Girdle Muscular Dystrophy.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:14Z",
  "url": "https://research.draconitic.com/paper/2czxdbbxa23cd",
  "venue": "Molecular genetics & genomic medicine",
  "versions": []
}